J
Jean-Louis Mandel
Researcher at University of Strasbourg
Publications - 372
Citations - 39716
Jean-Louis Mandel is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Gene & Fragile X syndrome. The author has an hindex of 101, co-authored 362 publications receiving 37522 citations. Previous affiliations of Jean-Louis Mandel include French Institute of Health and Medical Research & Collège de France.
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Journal ArticleDOI
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Victoria Campuzano,Laura Montermini,María Dolores Moltó,Luigi Pianese,Mireille Cossée,F Cavalcanti,Eugenia Monros,François Rodius,Franck Duclos,Antonella Monticelli,Federico Zara,Joaquín Cañizares,Hana Koutnikova,Sanjay I. Bidichandani,Cinzia Gellera,Alexis Brice,Paul Trouillas,Giuseppe De Michele,Alessandro Filla,Rosa de Frutos,Francisco Palau,Pragna Patel,Stefano Di Donato,Jean-Louis Mandel,Sergio Cocozza,Michel Koenig,Massimo Pandolfo +26 more
TL;DR: A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
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Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
I. Oberlé,François Rousseau,Dominique Heitz,Christine Kretz,Didier Devys,André Hanauer,Joëlle Boué,Bertheas Mf,Jean-Louis Mandel +8 more
TL;DR: expression of the fragile X syndrome appears to result from a two-step mutation as well as a highly localized methylation, and can easily be detected regardless of sex or phenotypic expression.
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Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Jean Mosser,A.-M. Douar,Claude-Olivier Sarde,Petra Kioschis,Robert Feil,Hugo W. Moser,Annemarie Poustka,Jean-Louis Mandel,Patrick Aubourg +8 more
TL;DR: In this paper, the authors used positional cloning to identify a gene partially deleted in 6 of 85 independent patients with Adrenoleukodystrophy (ALD) and two identical deletions were detected in two brothers presenting with different clinical ALD phenotypes.
Journal ArticleDOI
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
Alexandra Durr,Mireille Cossée,Yves Agid,Victoria Campuzano,Claude Mignard,C. Penet,Jean-Louis Mandel,Alexis Brice,Michel Koenig +8 more
TL;DR: The clinical spectrum of Friedreich's ataxia is broader than previously recognized, and the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling.
Journal ArticleDOI
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
Georges Imbert,Frédéric Saudou,Frédéric Saudou,Gaël Yvert,Gaël Yvert,Didier Devys,Didier Devys,Yvon Trottier,Yvon Trottier,Jean-Marie Garnier,Jean-Marie Garnier,Chantal Weber,Chantal Weber,Jean-Louis Mandel,Jean-Louis Mandel,Géraldine Cancel,Géraldine Cancel,Nacer Abbas,Nacer Abbas,Alexandra Durr,Alexandra Durr,Olivier Didierjean,Olivier Didierjean,Giovanni Stevanin,Giovanni Stevanin,Yves Agid,Yves Agid,Alexis Brice,Alexis Brice +28 more
TL;DR: The steep inverse correlation between age of onset and CAG number suggests a higher sensitivity to polyglutamine length than in the other polyglUTamine expansion diseases.